Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder
Atemin, Slavena, Todorov, Tihomir, Tourtourikov, Ivan, Ivanova, Mariya B., Chamova, Teodora, Avdjieva-Tzavella, Daniela, Kathom, Hadil, Georgieva, Bilyana, Guergueltcheva, Velina, Bradinova, Irena, Savov, Alexey, Tournev, Ivailo, Mitev, Vanyo, Todorova, Albena
Published in Journal of genetics (01.06.2023)
Published in Journal of genetics (01.06.2023)
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Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss‐of‐function ASCC1 gene mutation in two Bulgarian Roma patients
Bradinova, Irena, Andonova, Silvia, Vazharova, Radoslava, Tomova, Stiliyana, Balabanski, Lubomir, Savov, Alexey
Published in Clinical genetics (01.07.2022)
Published in Clinical genetics (01.07.2022)
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Dopa-responsive dystonia in Bulgarian patients: report of three cases
Atanasoska, Maya, Vazharova, Radoslava, Stevanović, Galina, Bradinova, Irena, Staykova, Slavyana Yaneva, Balabanski, Lubomir, Mircheva, Daniela, Avdjieva-Tzavella, Daniela, Toncheva, Draga
Published in European journal of human genetics : EJHG (10.05.2023)
Published in European journal of human genetics : EJHG (10.05.2023)
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New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria
Andonova, Silvia, Robeva, Ralitsa, Vazharova, Radoslava, Ledig, Susanne, Grozdanova, Liliana, Stefanova, Elisaveta, Bradinova, Irena, Todorov, Tihomir, Hadjidekov, George, Sirakov, Milko, Wieacker, Peter, Kumanov, Philip, Savov, Alexey
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
Dimitrov, Boyan, Balikova, Irina, de Ravel, Thomy, Van Esch, Hilde, De Smedt, Maryse, Baten, Emiel, Vermeesch, Joris Robert, Bradinova, Irena, Simeonov, Emil, Devriendt, Koen, Fryns, Jean-Pierre, Debeer, Philippe
Published in Journal of medical genetics (01.02.2011)
Published in Journal of medical genetics (01.02.2011)
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Hypertrichosis in patients with SURF1 mutations
Østergaard, Elsebet, Bradinova, Irena, Ravn, Susanne Holst, Hansen, Flemming Juul, Simeonov, Emil, Christensen, Ernst, Wibrand, Flemming, Schwartz, Marianne
Published in American journal of medical genetics. Part A (01.11.2005)
Published in American journal of medical genetics. Part A (01.11.2005)
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Journal Article
Netherton syndrome-A therapeutic challenge in childhood
Kostova, Polina, Petrova, Guergana, Shahid, Martin, Papochieva, Vera, Miteva, Dimitrinka, Yordanova, Ivelina, Drenovska, Kossara, Bradinova, Irena, Janniger, Camila K, Schwartz, Robert A, Vassileva, Snejina
Published in Clinical case reports (01.04.2024)
Published in Clinical case reports (01.04.2024)
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